N131S (p.Asn131Ser) variant of VHL (P40337)
N131S (p.Asn131Ser) in VHL (P40337) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of Chuvash polycythemia; Von Hippel-Lindau syndrome; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes published literature and structural context.
N131S (p.Asn131Ser) variant details
- p.Asn131Ser
- rs1553619963
- ClinGen CA351753941
- ClinVar RCV000590750
- ClinVar RCV002225684
- Likely benign
- Chuvash polycythemia; Von Hippel-Lindau syndrome; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.808
- AlphaMissense 0.53
- MetaLR 0.98
- MetaSVM 1.06
- PolyPhen-2 0.99
- EVE 0.56
- MutPred 0.91
- ClinVar: Likely benign (Chuvash polycythemia; Von Hippel-Lindau syndrome)
- EBI: Pathogenic (in VHLD)
- UniProt: Pathogenic (in VHLD)
- Structural context available
- Cited in: Clinical utility gene card for: familial erythrocytosis. (PMID 22274579)
- Cited in: Genetic cancer risk assessment and counseling: recommendations of the national society of genetic counselors. (PMID 15604628)